Phenotypes associated with this allele
Allelic Composition |
Opa1Q285X/Opa1Q285X
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Genetic Background |
involves: C3HeB/FeJ * C57BL/6JCrl |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Opa1Q285X mutation
(0 available);
any
Opa1 mutation
(54 available)
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mortality/aging
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• pups die between E11 and E14.5
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embryo
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• at E11, pups have gross morphological abnormalities
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• one embryo failed to turn
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nervous system
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• one embryo exhibited forebrain truncation
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growth/size/body
Allelic Composition |
Opa1Q285X/Opa1+
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|
Genetic Background |
involves: C3HeB/FeJ * C57BL/6JCrl |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Opa1Q285X mutation
(0 available);
any
Opa1 mutation
(54 available)
|
|
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reproductive system
vision/eye
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• at 18 months, the optic nerve has defects in myelin bundles and optic nerve fascicles appearing as gross whirls of myelin along the nerve
• however, mice have normal optic nerves and retinas at 6 months of age
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• 11-13 month old mutants exhibit deficits in light-adapted visual responses; although the positive peak of the b-wave is similar to wild-type, the amplitude of the photopic negative response (immediately following negative deflection) is reduced at the two brightest intensities tested
• however, 11-13 month old mutants exhibit normal dark-adapted visual responses
• both rod and cone visual pathways remain in tact, however the differences in late evolving components of the light-adapted ERG and flash VEP responses that are seen indicate ganglion cell dysfunction
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• 11-13 month old mutants exhibit deficits in light-adapted flash visually evoked potentials (VEPs), showing a normal negative N1 component but a reduction in the subsequent positive deflection (P2 wave) at the brightest intensity tested
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• at 6 and 12 months, mice are not functionally totally blind
• at 12 months, mice track less well on all three gratings indicating a decrease in visual acuity
• at 12 months, mice exhibit increased nocturnal running when exposed to a light unlike wild-type mice indicating a reduction in vision
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behavior/neurological
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• at 6 months, when transferred into an arena mice exhibit transfer arousal, freezing in place for a longer period of time than controls, decreased locomotor activity and increased provoked biting response
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cellular
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• most mice display cells that have punctuated and completely dispersed mitochondria throughout the cytosol and nucleus, thereby giving cells a 'powdered' appearance
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nervous system
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• some embryos exhibit forebrain truncation
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• at 18 months, the optic nerve has defects in myelin bundles and optic nerve fascicles appearing as gross whirls of myelin along the nerve
• however, mice have normal optic nerves and retinas at 6 months of age
|
embryo
growth/size/body